Allele Registry

Canonical Allele Identifier: PA645433826

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000473934

RCV002323695

ClinVar Variation:

406097

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1334Asn	CA16615016 NM_000548.5:c.4001G>A